Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia-Reference-Cited by-同舟云学术

Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia

Published:2023 Issue:5 Volume:26 Page:766-768
ISSN:0972-2327
Container-title:Annals of Indian Academy of Neurology
language:en
Short-container-title:

Author:

Kola Sruthi¹,Kandadai Rukmini Mridula¹,Kashyap Mansi¹,Deepak Sai¹,Prasad VVSRK¹,Alugolu Rajesh¹,Borgohain Rupam¹

Affiliation:

1. Department of Parkinson’s Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Telangana, India

Abstract

Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness, generalized dystonia and scoliosis who showed improvement after Deep brain stimulation.

Publisher

Medknow

Subject

Neurology (clinical)

Reference11 articles.

1. The syndrome of deafness-dystonia: Clinical and genetic heterogeneity;Kojovic;Mov Disord,2013

2. Iris coloboma, ptosis, hypertelorism, and mental retardation: A new syndrome;Baraitser;J Med Genet,1988

3. Actin: From structural plasticity to functional diversity;Schoenenberger;Eur J Cell Biol,2011

4. A mutation of beta-actin that alters depolymerisation dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia;Procaccio;Am J Hum Genet,2006

5. Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation;Skogseid;J Neurodev Disord,2018

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